ArticleDiagnostics (Basel, Switzerland)2020
Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients.
Article in Diagnostics (Basel, Switzerland), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 16 citations in OpenAlex.
- Novel Compound Heterozygous Variants inJournal of clinical medicine · 2026Article
- Potential of 3D Skin Models and N/TERT-2G Cell Line in Genetic Research on Autosomal Recessive Nonsyndromic Epidermal Differentiation Disorders.Experimental dermatology · 2026Article
- Identification of Pathogenic Variants inInternational journal of molecular sciences · 2026Article
- Article
- Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients.Dermatology (Basel, Switzerland) · 2024Article
- Human sulfotransferaseFrontiers in genetics · 2024Review
- De Novo Large Deletions in theDiagnostics (Basel, Switzerland) · 2023Article
- Article
- Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.Italian journal of pediatrics · 2022Article
- Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis.International journal of molecular sciences · 2022Review
- Harlequin ichthyosis newborn: A case report.SAGE open medical case reports · 2022Article
- Identification of the first congenital ichthyosis case caused by a homozygous deletion in theFrontiers in genetics · 2022Article
- Comprehensive Molecular Analysis ofDiagnostics (Basel, Switzerland) · 2021Article
- Novel Homozygous Mutations in the GenesGenes · 2021Article
- Article
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal recessive congenital ichthyoses (ARCI) are rare genodermatosis disorders characterized by phenotypic and genetic heterogeneity. At least fourteen genes so far have been related to ARCI; however, despite genetic heterogeneity, phenotypes associated with mutation of different ARCI genes may overlap, thereby making difficult their clinical and molecular classification. In addition, molecular tests for diagnosis of such an extremely rare heterogeneous inherited disease are not easily available in clinical settings. In the attempt of identifying the genetic cause of the disease in four Italian patients with ARCI, we performed next-generation sequencing (NGS) analysis targeting 4811 genes that have been previously linked to human genetic diseases; we focused our analysis on the 13 known ARCI genes comprised in the panel. Nine different variants including three novel small nucleotide changes and two novel large deletions have been identified and validated in the
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